rs104894827
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
| (T;T) | 6 | Fabry disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101398033 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894827 |
| dbSNP (classic) | rs104894827 |
| ClinGen | rs104894827 |
| ebi | rs104894827 |
| HLI | rs104894827 |
| Exac | rs104894827 |
| Gnomad | rs104894827 |
| Varsome | rs104894827 |
| LitVar | rs104894827 |
| Map | rs104894827 |
| PheGenI | rs104894827 |
| Biobank | rs104894827 |
| 1000 genomes | rs104894827 |
| hgdp | rs104894827 |
| ensembl | rs104894827 |
| geneview | rs104894827 |
| scholar | rs104894827 |
| rs104894827 | |
| pharmgkb | rs104894827 |
| gwascentral | rs104894827 |
| openSNP | rs104894827 |
| 23andMe | rs104894827 |
| SNPshot | rs104894827 |
| SNPdbe | rs104894827 |
| MSV3d | rs104894827 |
| GWAS Ctlg | rs104894827 |
| Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
| ClinVar | |
|---|---|
| Risk | Rs104894827(T;T) |
| Alt | Rs104894827(T;T) |
| Reference | Rs104894827(C;C) |
| Significance | Other |
| Disease | Fabry disease |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100653021G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011459.5, |
